PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron

Morgan N. V., Westaway S. K., Morton J. E. V., Gregory A., Gissen P., Sonek S., ...Daha Fazla

NATURE GENETICS, cilt.38, sa.7, ss.752-754, 2006 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 38 Sayı: 7
  • Basım Tarihi: 2006
  • Doi Numarası: 10.1038/ng1826
  • Dergi Adı: NATURE GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.752-754
  • Bursa Uludağ Üniversitesi Adresli: Hayır

Özet

Neurodegenerative disorders with high brain iron include Parkinson disease, Alzheimer disease and several childhood genetic disorders categorized as neuroaxonal dystrophies. We mapped a locus for infantile neuroaxonal dystrophy ( INAD) and neurodegeneration with brain iron accumulation (NBIA) to chromosome 22q12-q13 and identified mutations in PLA2G6, encoding a calcium-independent group VI phospholipase A(2), in NBIA, INAD and the related Karak syndrome. This discovery implicates phospholipases in the pathogenesis of neurodegenerative disorders with iron dyshomeostasis.